| 1 | Saethre-chotzen syndrome | Enrichment | FGFR2, FGFR3, TWIST1 | 5.80 |
| 2 | Non-syndromic bicoronal craniosynostosis | Enrichment | FGFR3, TWIST1, ZIC1 | 5.80 |
| 3 | Colorectal cancer | Enrichment | AXIN2, CDH1, CTNNB1, FGFR2, FGFR3, FZD3, SOX9 | 5.43 |
| 4 | Hypertrophic neuropathy of dejerine-sottas | Enrichment | GJB1, MPZ, PMP22 | 5.40 |
| 5 | Waardenburg syndrome | Enrichment | MITF, PAX3, SOX10 | 5.10 |
| 6 | Waardenburg syndrome, type 1 | Enrichment | MITF, PAX3, SOX10 | 4.86 |
| 7 | Waardenburg syndrome, type 2e | Enrichment | MITF, SNAI2, SOX10 | 4.86 |
| 8 | Adams-oliver syndrome | Enrichment | DLL4, NOTCH1, RBPJ | 4.86 |
| 9 | Otospondylomegaepiphyseal dysplasia, autosomal recessive | Enrichment | COL11A2, COL2A1 | 4.26 |
| 10 | Pfeiffer syndrome | Enrichment | FGFR1, FGFR2 | 4.26 |
| 11 | Jackson-weiss syndrome | Enrichment | FGFR1, FGFR2 | 4.26 |
| 12 | Roussy-levy hereditary areflexic dystasia | Enrichment | MPZ, PMP22 | 4.26 |
| 13 | Otospondylomegaepiphyseal dysplasia, autosomal dominant | Enrichment | COL11A2, COL2A1 | 4.26 |
| 14 | Connective tissue disease | Enrichment | COL2A1, FGFR3, NOTCH1, SOX9 | 4.05 |
| 15 | Cleft lip/palate | Enrichment | BMP4, CDH1, MSX1 | 3.86 |
| 16 | Crouzon syndrome | Enrichment | FGFR2, FGFR3 | 3.79 |
| 17 | Lacrimoauriculodentodigital syndrome 1 | Enrichment | FGFR2, FGFR3 | 3.79 |
| 18 | Waardenburg syndrome, type 2a | Enrichment | MITF, SOX10 | 3.79 |
| 19 | Osteoporosis, juvenile | Enrichment | WNT1, WNT3A | 3.79 |
| 20 | Charcot-marie-tooth disease type 1 | Enrichment | MPZ, PMP22 | 3.79 |
| 21 | Keratoacanthoma | Enrichment | NOTCH1, NOTCH2 | 3.79 |
| 22 | Microform holoprosencephaly | Enrichment | DLL1, FGF8, FGFR1 | 3.68 |
| 23 | Lobar holoprosencephaly | Enrichment | DLL1, FGF8, FGFR1 | 3.68 |
| 24 | Semilobar holoprosencephaly | Enrichment | DLL1, FGF8, FGFR1 | 3.52 |
| 25 | Robinow syndrome, autosomal dominant 1 | Enrichment | DVL1, DVL3 | 3.49 |
| 26 | Autosomal dominant robinow syndrome | Enrichment | DVL1, DVL3 | 3.49 |
| 27 | Haddad syndrome | Enrichment | ASCL1, PHOX2B | 3.49 |
| 28 | Craniosynostosis | Enrichment | FGFR2, FGFR3, TFAP2B | 3.38 |
| 29 | Hemifacial hyperplasia | Enrichment | FGFR2, FGFR3 | 3.27 |
| 30 | Robinow syndrome, autosomal recessive 1 | Enrichment | DVL1, DVL3 | 3.27 |
| 31 | Rhabdomyosarcoma 2 | Enrichment | PAX3, PAX7 | 3.27 |
| 32 | Robinow syndrome, autosomal dominant 2 | Enrichment | DVL1, DVL3 | 3.27 |
| 33 | Holoprosencephaly | Enrichment | FGF8, FGFR1 | 3.27 |
| 34 | Sensory peripheral neuropathy | Enrichment | GJB1, MPZ | 3.27 |
| 35 | Tooth agenesis | Enrichment | AXIN2, FGFR1, MSX1 | 3.25 |
| 36 | Kallmann syndrome | Enrichment | FGF8, FGFR1, SOX10 | 3.20 |
| 37 | Scoliosis | Enrichment | COL2A1, GFAP, TBX6 | 3.14 |
| 38 | Split-hand/foot malformation 1 | Enrichment | DLX5, FGFR2 | 3.09 |
| 39 | Holoprosencephaly 1 | Enrichment | FGF8, FGFR1 | 3.09 |
| 40 | Waardenburg syndrome, type 4a | Enrichment | MITF, SOX10 | 3.09 |
| 41 | Autosomal recessive robinow syndrome | Enrichment | DVL1, DVL3 | 3.09 |
| 42 | Spondylocostal dysostosis, autosomal recessive | Enrichment | DLL3, TBX6 | 3.09 |
| 43 | Common variable immunodeficiency | Enrichment | NFKB1, NFKB2 | 2.95 |
| 44 | Hirschsprung disease 1 | Enrichment | AXIN2, PHOX2B, SOX10 | 2.90 |
| 45 | Peripheral nervous system disease | Enrichment | GJB1, MPZ, PMP22 | 2.77 |
| 46 | Neuropathy | Enrichment | GJB1, MPZ, PMP22 | 2.77 |
| 47 | Tooth agenesis, selective, 1 | Enrichment | AXIN2, MSX1 | 2.72 |
| 48 | Adult hepatocellular carcinoma | Enrichment | AXIN1, CTNNB1 | 2.72 |
| 49 | Stickler syndrome | Enrichment | BMP4, COL2A1 | 2.62 |
| 50 | Rare genetic deafness | Enrichment | COL11A2, MITF, PAX3, SOX10 | 2.55 |
| 51 | Epicanthus | Enrichment | TCF4, TFAP2A | 2.46 |
| 52 | Renal hypodysplasia/aplasia 3 | Enrichment | BMP4, FGFR3 | 2.46 |
| 53 | Charcot-marie-tooth disease | Enrichment | GJB1, MPZ, PMP22 | 2.46 |
| 54 | Hydrocephalus | Enrichment | FGFR2, FZD3 | 2.27 |
| 55 | Septopreoptic holoprosencephaly | Enrichment | DLL1, FGF8 | 2.27 |
| 56 | Midline interhemispheric variant of holoprosencephaly | Enrichment | DLL1, FGF8 | 2.27 |
| 57 | Gliosarcoma | Enrichment | FGFR1, FGFR3 | 2.21 |
| 58 | Giant cell glioblastoma | Enrichment | FGFR1, FGFR3 | 2.16 |
| 59 | Alobar holoprosencephaly | Enrichment | DLL1, FGF8 | 2.16 |
| 60 | Stickler syndrome, type i | Enrichment | COL2A1 | 2.13 |
| 61 | Charcot-marie-tooth disease and deafness | Enrichment | PMP22 | 2.13 |
| 62 | Craniofacial-deafness-hand syndrome | Enrichment | PAX3 | 2.13 |
| 63 | Hypochondroplasia | Enrichment | FGFR3 | 2.13 |
| 64 | Beare-stevenson cutis gyrata syndrome | Enrichment | FGFR2 | 2.13 |
| 65 | Parietal foramina with cleidocranial dysplasia | Enrichment | MSX2 | 2.13 |
| 66 | Osteoglophonic dysplasia | Enrichment | FGFR1 | 2.13 |
| 67 | Guillain-barre syndrome, familial | Enrichment | PMP22 | 2.13 |
| 68 | Waardenburg syndrome, type 3 | Enrichment | PAX3 | 2.13 |
| 69 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | Enrichment | COL2A1 | 2.13 |
| 70 | Thanatophoric dysplasia, type i | Enrichment | FGFR3 | 2.13 |
| 71 | Trigonocephaly 1 | Enrichment | FGFR1 | 2.13 |
| 72 | Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive | Enrichment | DLX5 | 2.13 |
| 73 | Spondylometaphyseal dysplasia, algerian type | Enrichment | COL2A1 | 2.13 |
| 74 | Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | Enrichment | HDAC6 | 2.13 |
| 75 | Muenke syndrome | Enrichment | FGFR3 | 2.13 |
| 76 | Deafness, autosomal recessive 53 | Enrichment | COL11A2 | 2.13 |
| 77 | Osteoarthritis with mild chondrodysplasia | Enrichment | COL2A1 | 2.13 |
| 78 | Oligodontia-colorectal cancer syndrome | Enrichment | AXIN2 | 2.13 |
| 79 | Avascular necrosis of femoral head, primary, 1 | Enrichment | COL2A1 | 2.13 |
| 80 | Czech dysplasia | Enrichment | COL2A1 | 2.13 |
| 81 | Char syndrome | Enrichment | TFAP2B | 2.13 |
| 82 | Scaphocephaly, maxillary retrusion, and impaired intellectual development | Enrichment | FGFR2 | 2.13 |
| 83 | Charcot-marie-tooth disease, axonal, type 2j | Enrichment | MPZ | 2.13 |
| 84 | Neuropathy, hereditary, with liability to pressure palsies | Enrichment | PMP22 | 2.13 |
| 85 | Kniest dysplasia | Enrichment | COL2A1 | 2.13 |
| 86 | Apert syndrome | Enrichment | FGFR2 | 2.13 |
| 87 | Hajdu-cheney syndrome | Enrichment | NOTCH2 | 2.13 |
| 88 | Alagille syndrome 2 | Enrichment | NOTCH2 | 2.13 |
| 89 | Heterochromia iridis | Enrichment | MITF | 2.13 |
| 90 | Parietal foramina 1 | Enrichment | MSX2 | 2.13 |
| 91 | Platyspondylic lethal skeletal dysplasia, torrance type | Enrichment | COL2A1 | 2.13 |
| 92 | Tietz albinism-deafness syndrome | Enrichment | MITF | 2.13 |
| 93 | Lateral meningocele syndrome | Enrichment | NOTCH3 | 2.13 |
| 94 | Lamb-shaffer syndrome | Enrichment | SOX5 | 2.13 |
| 95 | Thanatophoric dysplasia, type ii | Enrichment | FGFR3 | 2.13 |
| 96 | Spondyloepiphyseal dysplasia, stanescu type | Enrichment | COL2A1 | 2.13 |
| 97 | Caudal duplication anomaly | Enrichment | AXIN1 | 2.13 |
| 98 | Craniosynostosis 6 | Enrichment | ZIC1 | 2.13 |
| 99 | Facial paresis, hereditary congenital, 3 | Enrichment | HOXB1 | 2.13 |
| 100 | Camptodactyly, tall stature, and hearing loss syndrome | Enrichment | FGFR3 | 2.13 |
| 101 | Bent bone dysplasia syndrome 1 | Enrichment | FGFR2 | 2.13 |
| 102 | Achondrogenesis, type ii | Enrichment | COL2A1 | 2.13 |
| 103 | 46,xy sex reversal 10 | Enrichment | SOX9 | 2.13 |
| 104 | Adams-oliver syndrome 6 | Enrichment | DLL4 | 2.13 |
| 105 | Chromosome 2q37 deletion syndrome | Enrichment | HDAC4 | 2.13 |
| 106 | Auriculocondylar syndrome 4 | Enrichment | HDAC9 | 2.13 |
| 107 | Cornelia de lange syndrome 5 | Enrichment | HDAC8 | 2.13 |
| 108 | 46,xx sex reversal 2 | Enrichment | SOX9 | 2.13 |
| 109 | Microphthalmia, syndromic 6 | Enrichment | BMP4 | 2.13 |
| 110 | Spondyloperipheral dysplasia | Enrichment | COL2A1 | 2.13 |
| 111 | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | Enrichment | CDH2 | 2.13 |
| 112 | Orofacial cleft 11 | Enrichment | BMP4 | 2.13 |
| 113 | Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | Enrichment | MITF | 2.13 |
| 114 | Bone mineral density quantitative trait locus 16 | Enrichment | WNT1 | 2.13 |
| 115 | Athabaskan brainstem dysgenesis syndrome | Enrichment | HOXA1 | 2.13 |
| 116 | Deafness, autosomal dominant 13 | Enrichment | COL11A2 | 2.13 |
| 117 | Crouzon syndrome with acanthosis nigricans | Enrichment | FGFR3 | 2.13 |
| 118 | Craniosynostosis 2 | Enrichment | MSX2 | 2.13 |
| 119 | Charcot-marie-tooth disease, dominant intermediate d | Enrichment | MPZ | 2.13 |
| 120 | Charcot-marie-tooth disease, axonal, type 2i | Enrichment | MPZ | 2.13 |
| 121 | Congenital myopathy 19 | Enrichment | PAX7 | 2.13 |
| 122 | Stickler syndrome, type i, nonsyndromic ocular | Enrichment | COL2A1 | 2.13 |
| 123 | Arrhythmogenic right ventricular dysplasia, familial, 14 | Enrichment | CDH2 | 2.13 |
| 124 | Myofibromatosis, infantile, 2 | Enrichment | NOTCH3 | 2.13 |
| 125 | Fibrochondrogenesis 2 | Enrichment | COL11A2 | 2.13 |
| 126 | Hypogonadotropic hypogonadism 6 with or without anosmia | Enrichment | FGF8 | 2.13 |
| 127 | Corneal dystrophy, fuchs endothelial, 3 | Enrichment | TCF4 | 2.13 |
| 128 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | Enrichment | FGFR3 | 2.13 |
| 129 | Structural brain anomalies with impaired intellectual development and craniosynostosis | Enrichment | ZIC1 | 2.13 |
| 130 | Patent ductus arteriosus 2 | Enrichment | TFAP2B | 2.13 |
| 131 | Hartsfield syndrome | Enrichment | FGFR1 | 2.13 |
| 132 | Deficiency in anterior pituitary function - variable immunodeficiency syndrome | Enrichment | NFKB2 | 2.13 |
| 133 | Neurodevelopmental disorder with central hypotonia and dysmorphic facies | Enrichment | HDAC4 | 2.13 |
| 134 | Vitreoretinopathy with phalangeal epiphyseal dysplasia | Enrichment | COL2A1 | 2.13 |
| 135 | Autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain | Enrichment | MPZ | 2.13 |
| 136 | Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay | Enrichment | NEUROG1 | 2.13 |
| 137 | Craniometadiaphyseal osteosclerosis with hip dysplasia | Enrichment | AXIN1 | 2.13 |
| 138 | Attention deficit-hyperactivity disorder 8 | Enrichment | CDH2 | 2.13 |
| 139 | Adenoid ameloblastoma | Enrichment | CTNNB1 | 2.13 |
| 140 | Lacrimoauriculodentodigital syndrome 2 | Enrichment | FGFR3 | 2.13 |
| 141 | Charcot-marie-tooth disease type 2i | Enrichment | MPZ | 2.13 |
| 142 | Congenital hereditary facial paralysis-variable hearing loss syndrome | Enrichment | HOXB1 | 2.13 |
| 143 | Transient cerebral ischemia | Enrichment | NOTCH3 | 2.13 |
| 144 | Breast lobular carcinoma | Enrichment | CDH1 | 2.13 |
| 145 | Autosomal dominant rhegmatogenous retinal detachment | Enrichment | COL2A1 | 2.13 |
| 146 | Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 | Enrichment | NOTCH3 | 2.13 |
| 147 | Multiple epiphyseal dysplasia with myopia and deafness | Enrichment | COL2A1 | 2.13 |
| 148 | Hypochondrogenesis | Enrichment | COL2A1 | 2.13 |
| 149 | Fgfr3-related chondrodysplasia | Enrichment | FGFR3 | 2.13 |
| 150 | Split hand-foot malformation 1 with sensorineural hearing loss | Enrichment | DLX5 | 2.13 |
| 151 | Charcot-marie-tooth disease type 2j | Enrichment | MPZ | 2.13 |
| 152 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome | Enrichment | FGFR3 | 2.13 |
| 153 | Dysspondyloenchondromatosis | Enrichment | COL2A1 | 2.13 |
| 154 | Cystic lymphangioma | Enrichment | COL11A2 | 2.13 |
| 155 | Bosley-salih-alorainy syndrome | Enrichment | HOXA1 | 2.13 |
| 156 | Hirschsprung disease-ganglioneuroblastoma syndrome | Enrichment | PHOX2B | 2.13 |
| 157 | Type 2 collagen-related bone disorder | Enrichment | COL2A1 | 2.13 |
| 158 | Hartsfield-bixler-demyer syndrome | Enrichment | FGFR1 | 2.13 |
| 159 | Non-syndromic unicoronal craniosynostosis | Enrichment | FGFR2 | 2.13 |
| 160 | Autosomal dominant spondylocostal dysostosis | Enrichment | TBX6 | 2.13 |
| 161 | Microcystic stromal tumor | Enrichment | CTNNB1 | 2.13 |
| 162 | Heart, malformation of | Enrichment | COL11A2, COL2A1 | 2.11 |
| 163 | Normosmic congenital hypogonadotropic hypogonadism | Enrichment | FGF8, FGFR1 | 2.11 |
| 164 | Endometrial cancer | Enrichment | CDH1, FGFR2 | 1.98 |
| 165 | Hepatoblastoma | Enrichment | CTNNB1, FGFR3 | 1.98 |
| 166 | Hepatocellular carcinoma | Enrichment | AXIN1, CTNNB1 | 1.94 |
| 167 | Precursor t-cell acute lymphoblastic leukemia | Enrichment | MYB, MYC | 1.90 |
| 168 | Ear malformation | Enrichment | COL11A2, MITF | 1.87 |
| 169 | Charcot-marie-tooth disease, demyelinating, type 1a | Enrichment | PMP22 | 1.83 |
| 170 | Charcot-marie-tooth disease, demyelinating, type 1b | Enrichment | MPZ | 1.83 |
| 171 | Blepharocheilodontic syndrome 1 | Enrichment | CDH1 | 1.83 |
| 172 | Burkitt lymphoma | Enrichment | MYC | 1.83 |
| 173 | Campomelic dysplasia | Enrichment | SOX9 | 1.83 |
| 174 | Spondyloepimetaphyseal dysplasia, strudwick type | Enrichment | COL2A1 | 1.83 |
| 175 | Alexander disease | Enrichment | GFAP | 1.83 |
| 176 | Spondylometaphyseal dysplasia, corner fracture type | Enrichment | COL2A1 | 1.83 |
| 177 | Robinow-sorauf syndrome | Enrichment | TWIST1 | 1.83 |
| 178 | Spinocerebellar ataxia, x-linked 1 | Enrichment | GJB1 | 1.83 |
| 179 | Osteopathia striata with cranial sclerosis | Enrichment | CTNNB1 | 1.83 |
| 180 | Cervical cancer | Enrichment | FGFR3 | 1.83 |
| 181 | Waardenburg syndrome, type 4c | Enrichment | SOX10 | 1.83 |
| 182 | Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy | Enrichment | MPZ | 1.83 |
| 183 | Piebald trait | Enrichment | SNAI2 | 1.83 |
| 184 | Aural atresia, congenital | Enrichment | FGFR2 | 1.83 |
| 185 | Legg-calve-perthes disease | Enrichment | COL2A1 | 1.83 |
| 186 | Keratosis, seborrheic | Enrichment | FGFR3 | 1.83 |
| 187 | Neuropathy, congenital hypomyelinating, 1, autosomal recessive | Enrichment | MPZ | 1.83 |
| 188 | Osteogenesis imperfecta, type xv | Enrichment | WNT1 | 1.83 |
| 189 | Encephalocraniocutaneous lipomatosis | Enrichment | FGFR1 | 1.83 |
| 190 | Orofacial cleft 5 | Enrichment | MSX1 | 1.83 |
| 191 | Adams-oliver syndrome 5 | Enrichment | NOTCH1 | 1.83 |
| 192 | Robinow syndrome, autosomal dominant 3 | Enrichment | DVL3 | 1.83 |
| 193 | Witkop syndrome | Enrichment | MSX1 | 1.83 |
| 194 | Immunodeficiency, common variable, 12, with autoimmunity | Enrichment | NFKB1 | 1.83 |
| 195 | Immunodeficiency, common variable, 10 | Enrichment | NFKB2 | 1.83 |
| 196 | Syndactyly, type iii | Enrichment | HDAC8 | 1.83 |
| 197 | Spastic paraplegia, intellectual disability, nystagmus, and obesity | Enrichment | GFAP | 1.83 |
| 198 | Adams-oliver syndrome 3 | Enrichment | RBPJ | 1.83 |
| 199 | Antley-bixler syndrome without genital anomalies or disordered steroidogenesis | Enrichment | FGFR2 | 1.83 |
| 200 | Oculocutaneous albinism, type viii | Enrichment | DCT | 1.83 |
| 201 | Sweeney-cox syndrome | Enrichment | TWIST1 | 1.83 |
| 202 | Neuropathy, congenital hypomyelinating, 2 | Enrichment | MPZ | 1.83 |
| 203 | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | Enrichment | DLL1 | 1.83 |
| 204 | Infantile myofibromatosis | Enrichment | NOTCH3 | 1.83 |
| 205 | Charcot-marie-tooth disease type 1b | Enrichment | MPZ | 1.83 |
| 206 | Melanoma, cutaneous malignant 8 | Enrichment | MITF | 1.83 |
| 207 | Fibrochondrogenesis | Enrichment | COL11A2 | 1.83 |
| 208 | Wilson-turner syndrome | Enrichment | HDAC8 | 1.83 |
| 209 | Childhood hepatocellular carcinoma | Enrichment | CTNNB1 | 1.83 |
| 210 | Bladder exstrophy | Enrichment | ISL1 | 1.83 |
| 211 | Parietal foramina | Enrichment | MSX2 | 1.83 |
| 212 | Acute basophilic leukemia | Enrichment | MYB | 1.83 |
| 213 | Split hand-foot malformation | Enrichment | FGFR2 | 1.83 |
| 214 | Rosette-forming glioneuronal tumor | Enrichment | FGFR1 | 1.83 |
| 215 | Charcot-marie-tooth disease type 1a | Enrichment | PMP22 | 1.83 |
| 216 | Lipodystrophy, familial partial, type 1 | Enrichment | NOTCH3 | 1.83 |
| 217 | Depressive disorder | Enrichment | NOTCH3 | 1.83 |
| 218 | Papillary renal cell carcinoma | Enrichment | MITF | 1.83 |
| 219 | Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease | Enrichment | SOX10 | 1.83 |
| 220 | Angiocentric glioma | Enrichment | MYB | 1.83 |
| 221 | Familial avascular necrosis of the femoral head | Enrichment | COL2A1 | 1.83 |
| 222 | Cervix carcinoma | Enrichment | FGFR3 | 1.83 |
| 223 | Esotropia | Enrichment | TFAP2A | 1.83 |
| 224 | Isolated dandy-walker malformation with hydrocephalus | Enrichment | ZIC1 | 1.83 |
| 225 | Interfrontal craniofaciosynostosis | Enrichment | FGFR1 | 1.83 |
| 226 | Juvenile nasopharyngeal angiofibroma | Enrichment | CTNNB1 | 1.83 |
| 227 | Autosomal dominant nonsyndromic deafness | Enrichment | FGFR2 | 1.83 |
| 228 | Teratoma | Enrichment | CTNNB1 | 1.83 |
| 229 | Non-syndromic sagittal craniosynostosis | Enrichment | TWIST1 | 1.83 |
| 230 | Common variable immunodeficiency 12 | Enrichment | NFKB1 | 1.83 |
| 231 | Lens subluxation | Enrichment | TFAP2A | 1.83 |
| 232 | Familial patent arterial duct | Enrichment | TFAP2B | 1.83 |
| 233 | Campomelic dysplasia and related disorders | Enrichment | SOX9 | 1.83 |
| 234 | Tetralogy of fallot | Enrichment | HEY2, NOTCH1 | 1.80 |
| 235 | Auditory neuropathy | Enrichment | CDH2, NOTCH3 | 1.80 |
| 236 | Inherited cancer-predisposing syndrome | Enrichment | AXIN2, CDH1, MITF, PHOX2B | 1.77 |
| 237 | Strabismus | Enrichment | DMBX1, SOX5 | 1.77 |
| 238 | Bladder cancer | Enrichment | CTNNB1, FGFR3 | 1.71 |
| 239 | Desmoid disease, hereditary | Enrichment | CTNNB1 | 1.65 |
| 240 | Achondroplasia | Enrichment | FGFR3 | 1.65 |
| 241 | Mccune-albright syndrome | Enrichment | COL2A1 | 1.65 |
| 242 | Craniosynostosis 1 | Enrichment | TWIST1 | 1.65 |
| 243 | Jacobsen syndrome | Enrichment | ETS1 | 1.65 |
| 244 | Hypogonadotropic hypogonadism 2 with or without anosmia | Enrichment | FGFR1 | 1.65 |
| 245 | Larsen syndrome | Enrichment | FGFR3 | 1.65 |
| 246 | Spondylocostal dysostosis 5 | Enrichment | TBX6 | 1.65 |
| 247 | Spondyloepiphyseal dysplasia congenita | Enrichment | COL2A1 | 1.65 |
| 248 | Hypophosphatasia, infantile | Enrichment | COL11A2 | 1.65 |
| 249 | 46,xx sex reversal 1 | Enrichment | SOX9 | 1.65 |
| 250 | Autoimmune disease 1 | Enrichment | FOXD3 | 1.65 |
| 251 | Charcot-marie-tooth disease, x-linked dominant, 1 | Enrichment | GJB1 | 1.65 |
| 252 | Neurodevelopmental disorder with spastic diplegia and visual defects | Enrichment | CTNNB1 | 1.65 |
| 253 | Chromosome 8p11 myeloproliferative syndrome | Enrichment | FGFR1 | 1.65 |
| 254 | Chromosome 17q12 deletion syndrome | Enrichment | LHX1 | 1.65 |
| 255 | Neuroblastoma 2 | Enrichment | PHOX2B | 1.65 |
| 256 | Anus, imperforate | Enrichment | CTNNB1 | 1.65 |
| 257 | Exudative vitreoretinopathy 7 | Enrichment | CTNNB1 | 1.65 |
| 258 | Desmoid tumor | Enrichment | CTNNB1 | 1.65 |
| 259 | High-grade b-cell lymphoma double-hit/triple-hit | Enrichment | MYC | 1.65 |
| 260 | Hamartoma | Enrichment | FGFR3 | 1.65 |
| 261 | Testicular germ cell cancer | Enrichment | FGFR3 | 1.65 |
| 262 | Leukodystrophy and acquired microcephaly with or without dystonia | Enrichment | DLL3 | 1.65 |
| 263 | Migraine without aura | Enrichment | NOTCH3 | 1.65 |
| 264 | Adenoid cystic carcinoma | Enrichment | MYB | 1.65 |
| 265 | Spermatocytoma | Enrichment | FGFR3 | 1.65 |
| 266 | Multiple epiphyseal dysplasia | Enrichment | COL2A1 | 1.65 |
| 267 | Testicular cancer | Enrichment | FGFR3 | 1.65 |
| 268 | Isolated dandy-walker malformation without hydrocephalus | Enrichment | ZIC1 | 1.65 |
| 269 | Branchiooculofacial syndrome | Enrichment | TFAP2A | 1.53 |
| 270 | Diffuse gastric and lobular breast cancer syndrome | Enrichment | CDH1 | 1.53 |
| 271 | Acyl-coa dehydrogenase, very long-chain, deficiency of | Enrichment | DVL2 | 1.53 |
| 272 | Pitt-hopkins syndrome | Enrichment | TCF4 | 1.53 |
| 273 | Immunodeficiency, common variable, 1 | Enrichment | NFKB2 | 1.53 |
| 274 | Pilomatrixoma | Enrichment | CTNNB1 | 1.53 |
| 275 | Alazami syndrome | Enrichment | CTNNB1 | 1.53 |
| 276 | Central hypoventilation syndrome, congenital, 1 | Enrichment | PHOX2B | 1.53 |
| 277 | Cerebrovascular disease | Enrichment | NOTCH3 | 1.53 |
| 278 | Craniopharyngioma | Enrichment | CTNNB1 | 1.53 |
| 279 | Glioma | Enrichment | FGFR2 | 1.53 |
| 280 | Cleft lip and alveolus | Enrichment | MSX1 | 1.53 |
| 281 | Clear cell papillary renal cell carcinoma | Enrichment | MITF | 1.53 |
| 282 | Neuronopathy, distal hereditary motor, autosomal dominant 2 | Enrichment | MPZ | 1.44 |
| 283 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Enrichment | NOTCH3 | 1.44 |
| 284 | Retinal detachment | Enrichment | COL2A1 | 1.44 |
| 285 | Exudative vitreoretinopathy 1 | Enrichment | CTNNB1 | 1.44 |
| 286 | Hypogonadotropic hypogonadism 1 with or without anosmia | Enrichment | SOX10 | 1.44 |
| 287 | Ventricular septal defect 1 | Enrichment | BMP7 | 1.44 |
| 288 | Cholangitis, primary sclerosing | Enrichment | TCF4 | 1.44 |
| 289 | Congenital heart defects, multiple types, 4 | Enrichment | BMP7 | 1.44 |
| 290 | Fuchs' endothelial dystrophy | Enrichment | TCF4 | 1.44 |
| 291 | Amblyopia | Enrichment | TFAP2A | 1.44 |
| 292 | Nonsyndromic 46,xx testicular disorders/differences of sex development | Enrichment | SOX9 | 1.44 |
| 293 | Aplasia cutis congenita | Enrichment | DLL4 | 1.44 |
| 294 | Vascular dementia | Enrichment | NOTCH3 | 1.44 |
| 295 | Cleft upper lip | Enrichment | MSX1 | 1.44 |
| 296 | Genetic motor neuron disease | Enrichment | MPZ | 1.44 |
| 297 | Farsightedness | Enrichment | DMBX1 | 1.44 |
| 298 | Primary hypereosinophilic syndrome | Enrichment | FGFR1 | 1.44 |
| 299 | Nonsyndromic hearing loss | Enrichment | COL11A2, MITF | 1.41 |
| 300 | Ovarian cancer | Enrichment | AXIN2, CDH1, CTNNB1 | 1.40 |
| 301 | Gastric cancer | Enrichment | CDH1, FGFR2 | 1.39 |
| 302 | Familial thoracic aortic aneurysm and aortic dissection | Enrichment | HEY2, NOTCH1 | 1.37 |
| 303 | Developmental dysplasia of the hip 1 | Enrichment | COL2A1 | 1.36 |
| 304 | Branchiootorenal syndrome 1 | Enrichment | TFAP2A | 1.36 |
| 305 | Weyers acrofacial dysostosis | Enrichment | CTNNB1 | 1.36 |
| 306 | Pierre robin syndrome | Enrichment | SOX9 | 1.36 |
| 307 | Metachromatic leukodystrophy | Enrichment | GFAP | 1.36 |
| 308 | Testicular germ cell tumor | Enrichment | FGFR3 | 1.36 |
| 309 | Anterior segment dysgenesis 5 | Enrichment | BMP4 | 1.36 |
| 310 | Intestinal pseudo-obstruction | Enrichment | TFAP2B | 1.36 |
| 311 | Pain disorder | Enrichment | GJB1 | 1.36 |
| 312 | Adrenocortical carcinoma | Enrichment | CTNNB1 | 1.36 |
| 313 | Lung squamous cell carcinoma | Enrichment | FGFR3 | 1.36 |
| 314 | 46,xy disorder of sex development | Enrichment | FGFR3 | 1.36 |
| 315 | Multicystic kidney dysplasia | Enrichment | FZD3 | 1.36 |
| 316 | Albinism | Enrichment | DCT | 1.36 |
| 317 | Cleft lip with or without cleft palate | Enrichment | CDH1 | 1.36 |
| 318 | Multicystic dysplastic kidney | Enrichment | FZD3 | 1.36 |
| 319 | Nevus, epidermal | Enrichment | FGFR3 | 1.29 |
| 320 | Multiple enchondromatosis, maffucci type | Enrichment | COL2A1 | 1.29 |
| 321 | Branchiootorenal syndrome | Enrichment | TFAP2A | 1.29 |
| 322 | Motor neuron disease | Enrichment | MPZ | 1.29 |
| 323 | Gallbladder cancer | Enrichment | CTNNB1 | 1.29 |
| 324 | Pilomyxoid astrocytoma | Enrichment | FGFR1 | 1.29 |
| 325 | Autosomal dominant non-syndromic intellectual disability | Enrichment | DLL1, TCF4 | 1.27 |
| 326 | Hypertelorism | Enrichment | FGFR2, TFAP2A | 1.24 |
| 327 | Rare autosomal dominant non-syndromic sensorineural deafness type dfna | Enrichment | COL11A2, MITF | 1.24 |
| 328 | Melanocytic nevus syndrome, congenital | Enrichment | SOX5 | 1.24 |
| 329 | Spastic paraplegia 4, autosomal dominant | Enrichment | TCF4 | 1.24 |
| 330 | Fanconi anemia, complementation group c | Enrichment | HDAC8 | 1.24 |
| 331 | Spondylocostal dysostosis 1, autosomal recessive | Enrichment | DLL3 | 1.24 |
| 332 | Exudative vitreoretinopathy | Enrichment | CTNNB1 | 1.24 |
| 333 | Neuroblastoma | Enrichment | PHOX2B | 1.24 |
| 334 | Hypoplastic left heart syndrome | Enrichment | NOTCH1 | 1.24 |
| 335 | Isolated split hand-split foot malformation | Enrichment | DLX5 | 1.24 |
| 336 | Microcephaly | Enrichment | CTNNB1, HDAC8, TCF4 | 1.19 |
| 337 | Cornelia de lange syndrome 1 | Enrichment | HDAC8 | 1.19 |
| 338 | Hypogonadotropic hypogonadism | Enrichment | FGFR1 | 1.19 |
| 339 | Congenital central hypoventilation syndrome | Enrichment | PHOX2B | 1.19 |
| 340 | Cornelia de lange syndrome | Enrichment | HDAC8 | 1.19 |
| 341 | Myeloma, multiple | Enrichment | FGFR3, HDAC4 | 1.19 |
| 342 | Cat eye syndrome | Enrichment | TFAP2A | 1.14 |
| 343 | Marfan syndrome | Enrichment | COL2A1 | 1.14 |
| 344 | Meier-gorlin syndrome 1 | Enrichment | FGFR2 | 1.14 |
| 345 | Peters-plus syndrome | Enrichment | BMP4 | 1.14 |
| 346 | Stroke, ischemic | Enrichment | NOTCH3 | 1.14 |
| 347 | Ciliary dyskinesia, primary, 3 | Enrichment | NFKB1 | 1.14 |
| 348 | Melanoma | Enrichment | MITF | 1.14 |
| 349 | Primary bone dysplasia | Enrichment | FGFR3 | 1.14 |
| 350 | Migraine with or without aura 1 | Enrichment | NOTCH3 | 1.10 |
| 351 | Atrial heart septal defect | Enrichment | HDAC8 | 1.10 |
| 352 | 46,xy complete gonadal dysgenesis | Enrichment | SOX9 | 1.10 |
| 353 | Osteochondrodysplasia | Enrichment | FGFR3 | 1.10 |
| 354 | Interatrial communication | Enrichment | HDAC8 | 1.10 |
| 355 | Septooptic dysplasia | Enrichment | FGFR1 | 1.07 |
| 356 | Aortic valve disease 1 | Enrichment | NOTCH1 | 1.03 |
| 357 | Osteogenesis imperfecta, type iv | Enrichment | WNT1 | 1.03 |
| 358 | Neural tube defects | Enrichment | ITGB1 | 1.03 |
| 359 | Stereotypic movement disorder | Enrichment | TCF4 | 1.03 |
| 360 | Hypogonadotropic hypogonadism 7 with or without anosmia | Enrichment | FGFR1 | 1.00 |
| 361 | Osteoporosis | Enrichment | WNT1 | 1.00 |
| 362 | Medulloblastoma | Enrichment | CTNNB1 | 1.00 |
| 363 | Aortic aneurysm, familial thoracic 1 | Enrichment | NOTCH1 | 1.00 |
| 364 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant | Enrichment | CDH2 | 1.00 |
| 365 | 46,xy partial gonadal dysgenesis | Enrichment | SOX9 | 1.00 |
| 366 | Corpus callosum, agenesis of | Enrichment | CDH2 | 0.97 |
| 367 | Osteogenesis imperfecta, type iii | Enrichment | WNT1 | 0.97 |
| 368 | Myopia | Enrichment | COL2A1 | 0.97 |
| 369 | Isolated corpus callosum agenesis | Enrichment | CDH2 | 0.97 |
| 370 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | Enrichment | CDH2 | 0.97 |
| 371 | Melanoma, cutaneous malignant 1 | Enrichment | MITF | 0.92 |
| 372 | Polycystic liver disease | Enrichment | CTNNB1 | 0.92 |
| 373 | Autosomal dominant polycystic liver disease | Enrichment | CTNNB1 | 0.92 |
| 374 | Charcot-marie-tooth disease type 4 | Enrichment | MPZ | 0.90 |
| 375 | Polycystic kidney disease | Enrichment | HDAC8 | 0.90 |
| 376 | Arteriovenous malformations of the brain | Enrichment | CDH2 | 0.88 |
| 377 | Microphthalmia | Enrichment | TFAP2A | 0.82 |
| 378 | Brittle bone disorder | Enrichment | WNT1 | 0.80 |
| 379 | Congenital nervous system abnormality | Enrichment | CTNNB1, FGFR3 | 0.73 |
| 380 | Nervous system disease | Enrichment | CTNNB1, FGFR3 | 0.73 |
| 381 | Prostate cancer | Enrichment | CDH1 | 0.71 |
| 382 | Stargardt disease 1 | Enrichment | COL2A1 | 0.70 |
| 383 | Non-syndromic genetic deafness | Enrichment | MITF | 0.63 |
| 384 | Systemic lupus erythematosus | Enrichment | ETS1 | 0.60 |
| 385 | Type 2 diabetes mellitus | Enrichment | RBPJ | 0.57 |
| 386 | Distal arthrogryposis | Enrichment | FZD3 | 0.57 |
| 387 | Hereditary breast carcinoma | Enrichment | CDH1 | 0.55 |
| 388 | Sensorineural hearing loss | Enrichment | COL11A2 | 0.52 |
| 389 | Hereditary breast ovarian cancer syndrome | Enrichment | MITF | 0.47 |
| 390 | Male infertility with azoospermia or oligozoospermia due to single gene mutation | Enrichment | FGF8 | 0.47 |
| 391 | Primary ovarian insufficiency | Enrichment | NOTCH2 | 0.45 |
| 392 | Breast cancer | Enrichment | CDH1 | 0.37 |
| 393 | Rare autosomal recessive non-syndromic sensorineural deafness type dfnb | Enrichment | COL11A2 | 0.31 |
| 394 | Autism spectrum disorder | Enrichment | TCF4 | 0.25 |
| 395 | Hereditary retinal dystrophy | Enrichment | COL11A2, COL2A1 | 0.19 |
| 396 | Fundus dystrophy | Enrichment | COL11A2, COL2A1 | 0.19 |